"ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curat - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9632	NC_012920.1:m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	Mitochondrial disease +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 9663	NC_012920.1:m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9563	NC_012920.1:m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 42226	NC_012920.1:m.7471dup	MT-TS1	Duplication	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 42228	m.7476C>T	MT-TS1	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 9569	m.7497G>A	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 228859	NC_012920.1:m.7502C>T	MT-TS1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9565	m.7510T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9566	m.7511T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database